{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T01:52:10Z","timestamp":1791165130393,"version":"4.1.0"},"reference-count":40,"publisher":"Wiley","issue":"14","license":[{"start":{"date-parts":[[2008,8,29]],"date-time":"2008-08-29T00:00:00Z","timestamp":1219968000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2008,8,29]],"date-time":"2008-08-29T00:00:00Z","timestamp":1219968000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2008,10,30]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Mutations in the \u03f5\u2010sarcoglycan (\n                    <jats:italic>SGCE<\/jats:italic>\n                    ) gene have been associated with DYT11 myoclonus\u2010dystonia syndrome (MDS). The aim of this study was to characterize myoclonus in 9 patients with DYT11\u2010MDS presenting with predominant myoclonus and mild dystonia by means of neurophysiological techniques. Variously severe multifocal myoclonus occurred in all of the patients, and included short (mean 89.1 \u00b1 13.3 milliseconds) electromyographic bursts without any electroencephalographic correlate, sometimes presenting a pseudo\u2010rhythmic course. Massive jerks could be evoked by sudden stimuli in 5 patients, showing a \u201cstartle\u2010like\u201d muscle spreading and latencies consistent with a brainstem origin. Somatosensory evoked potentials and long\u2010loop reflexes were normal, as was silent period and long\u2010term intracortical inhibition evaluated by means of transcranial magnetic stimulation; however, short\u2010term intracortical inhibition revealed subtle impairment, and event\u2010related synchronization (ERS) in the beta band was delayed. Blink reflex recovery was strongly enhanced. Myoclonus in DYT11\u2010MDS seems to be generated at subcortical level, and possibly involves basal ganglia and brainstem circuitries. Cortical impairment may depend from subcortical dysfunction, but it can also have a role in influencing the myoclonic presentation. The wide distribution of the defective\n                    <jats:italic>SCGE<\/jats:italic>\n                    in DYT11\u2010MDS may justify the involvement of different brain areas. \u00a9 2008 Movement Disorder Society\n                  <\/jats:p>","DOI":"10.1002\/mds.22256","type":"journal-article","created":{"date-parts":[[2008,8,29]],"date-time":"2008-08-29T11:42:01Z","timestamp":1220010121000},"page":"2041-2048","source":"Crossref","is-referenced-by-count":50,"title":["A neurophysiological study of myoclonus in patients with DYT11 myoclonus\u2010dystonia 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